Web22. júl 2024 · Background Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment. The management of PKU should start as soon as possible after diagnosis to prevent … Webfairer skin, hair and eyes than siblings who do not have the condition (phenylalanine is involved in the body's production of melanin, the pigment responsible for skin and hair …
The Ripple Effect of a Bad Boss on Dual-Career Parents
WebIntroduction: Patients with phenylketonuria (PKU) must follow a lifelong phenylalanine (Phe)-restricted diet with additional amino acid supplementations, and this may put them … Webpred 20 hodinami · This effect held true regardless of parent gender and number of children. While there is still much to untangle about how the work environments of the couples in our study affect their children ... pet and industrial delivery
Measuring Burden of Illness in Phenylketonuria (PKU ... - Springer
WebDeveloped for patients with phenylketonuria (PKU) and their parents to cover the physical, emotional, and social impacts of PKU and its treatment on patients’ lives Therapeutic area Congenital, Hereditary, and Neonatal Diseases and Abnormalities Nutritional and Metabolic Diseases Rare disease (Orphanet definition) Therapeutic indications WebThe impact of long-standing, demanding health behaviors on the social life of patients affected by a chronic metabolic disease must be recognized, taking into particular consideration both social functioning and adherence to dietary treatment. Web9. mar 2024 · Phenylketonuria (PKU) is a rare genetic disorder caused by a defect in the metabolism of phenylalanine (PHE) resulting in elevated blood and brain PHE levels, and leading to cognitive, emotional, and psychosocial problems. The phenylketonuria – quality of life (PKU-QOL) questionnaire was the first self-administered disease-specific … pet and human health